Researchers have developed a machine learning model that can help clinicians assess uncertain variants in prenatal genetic testing, providing more accurate diagnoses and clearer information for families. The approach uses tissue-agnostic episignatures to overcome limitations in epigenetic testing.
Researchers analyzed over 600 tumors from 544 patients and found distinct genomic signatures of DNA changes linked to different chemotherapies. These patterns appeared as early as 91 days after treatment began, allowing clinicians to track treatment-resistant tumours and potentially reduce toxic effects. The study could lead to a more ...
Researchers have identified a previously unknown genetic cause of Crohn’s disease and uncovered its link to inflammation through the RIPK1 pathway. This discovery may guide more precise treatments and improve patient matching based on unique biology.
Researchers have identified a long non-coding RNA gene, PTCHD1-AS, as a contributor to increased likelihood of Autism Spectrum Disorder (ASD) in males. The study found that deletions within this gene influence social interaction and repetitive behaviors without affecting cognition.
Researchers at The Hospital for Sick Children have developed a method to predict attention lapses in children using real-time brain signals. A brief targeted intervention can restore focus when delivered exactly at the moment of predicted lapse.
A team from SickKids discovered a therapeutic target in fat tissue that improves cellular function and reduces inflammation. Low-dose homoharringtonine treatment selectively eliminates senescent cells, improving metabolic problems and preserving lean mass.
A global clinical trial led by SickKids has found that mavacamten improves blood flow and reduces obstruction in youth with hypertrophic cardiomyopathy (HCM), a genetic heart disease. The study's results offer hope to families avoiding open-heart surgery, setting the stage for precision therapeutics.
Researchers at The Hospital for Sick Children have mapped how tuberculosis bacteria fuel themselves during infection. They discovered the protein EtfD, which extracts energy from lipids, and developed a laboratory test to measure its activity. This breakthrough provides new insights into treating TB and may lead to shorter treatment re...
Researchers at The Hospital for Sick Children have developed new guidelines for pediatric clinical trial reporting, incorporating child and youth-focused considerations. The SPIRIT-C 2026 and CONSORT-C 2026 guidelines aim to improve the quality, transparency, and usefulness of pediatric RCT protocols and final reports.
Researchers have identified three unique subtypes of mismatch repair deficient high-grade gliomas, providing a clearer understanding of their development and behavior. The findings are helping guide more precise therapies and offer hope for a potential vaccine to target cancer cells earlier.
A new study found that young adults with complex childhood-onset conditions experience longer hospital stays, higher readmission rates, and greater use of resources in adult hospitals. These patients account for 6.7% of young adult hospitalizations but occupy 10.7% of all hospital bed-days.
A new study found that a small dose of peanut oral immunotherapy can help children with their peanut allergy and reduce the risk of severe reactions from accidental exposures. Children receiving the low-dose treatment experienced significant increases in their allergic reaction threshold to peanuts.
A new Ontario-based study suggests that children aged three months to two years are more likely to visit the emergency department within three days of a virtual primary care appointment compared to an in-person visit. In-person appointments may be preferable for young children with acute concerns.
Researchers at The Hospital for Sick Children have identified a non-coding gene called CISTR-ACT that regulates cell size. By exploring its molecular mechanism, the team found that CISTR-ACT guides a protein called FOSL2 to bind to other genes, controlling cell growth and development.
A new study found a significant rise in ADHD stimulant prescriptions in Ontario, with a 157% increase from 2015 to 2023. The study calls for better clinical guidance to ensure medications are prescribed appropriately and prevent adverse health effects.
A SickKids-led study reveals how bile acids can bind to block C. diff's most dangerous toxin, leading to the development of a new compound that neutralizes the toxin directly in the gut. This approach preserves gut health and targets the toxin with precision, offering hope for safer treatments.
A study by The Hospital for Sick Children reveals a previously overlooked layer of genetic variation in short tandem repeats (STRs) that can influence gene regulation and shape disease risk. This discovery may inform future research and precision therapeutic development in support of Precision Child Health.
A study led by SickKids scientists discovered a previously overlooked layer of genetic variation that could help explain individual differences in disease risk and treatment response. The researchers found that subtle changes in short tandem repeats can impact gene function, revealing new insights into neurodevelopmental conditions.
A new study found that higher levels of screen time in early childhood are associated with lower scores in reading and mathematics. Excessive TV and digital media exposure was particularly linked to lower achievement in these subjects, especially among female students.
Researchers uncover how cerebrospinal fluid dynamics drive tumour spread, identifying a way to target this process to inhibit metastasis. The study provides new insights into the role of fluid shear stress in shaping cancer behaviour and offers a promising therapeutic approach for medulloblastoma.
Researchers have identified a new therapeutic target, ABHD18, which can restore mitochondrial health and improve heart function in preclinical models of Barth syndrome. By blocking this gene, the body can bypass the problem caused by the faulty TAFAZZIN gene, offering a potential path to targeted therapies.
A new study found that automated speed enforcement cameras in Toronto school zones reduced speeding by 45% and lowered the 85th percentile speed by 10.7 km/h. The study suggests that ASE can be an effective way to reduce pedestrian injury risk, especially in areas where children are most vulnerable.
An international team has uncovered a new mechanism by which mitochondria and peroxisomes work together to defend against oxidative stress, maintaining cellular health. This discovery challenges the long-standing idea that cellular defense is confined within individual compartments.
Scientists have uncovered a genetic link between autism spectrum disorder and myotonic dystrophy type 1, suggesting a new mechanism for social behaviors in ASD. The study found that the genetic variation causing DM1 affects brain development and leads to protein imbalance, mis-splicing of genes involved in brain function.
Researchers at SickKids identified three new genes associated with rare childhood diarrhea, providing a diagnosis for 48% of cases. The study found that genetic testing and targeted treatments can improve the quality of life for children like Sophie, who was diagnosed with CODE at just two days old.
A new study reveals a previously unexplored mode of protein regulation in cystic fibrosis, opening up a target for future therapies. The research finds that CFTR proteins form clusters on cell membranes, which are disrupted in people with the condition.
Scientists at The Hospital for Sick Children have discovered a way to stop tumour growth before it starts for a subtype of medulloblastoma, the most common childhood malignant brain cancer. By blocking a key protein responsible for waking 'sleeping' stem cells, the study demonstrates a novel strategy to target cancer stem cells.
Researchers at SickKids have identified the KCNB2 gene as a key target for treating medulloblastoma. Targeting this gene can enhance current cancer treatments and tackle tumour growth without impacting surrounding healthy cells.
A new genetic link has been identified between the DDX53 gene and autism spectrum disorder (ASD), providing crucial insights into the biological underpinnings of the condition. The study found that variants in the DDX53 gene contribute to ASD, particularly in males, highlighting its potential role in the male predominance observed in ASD.
A global clinical trial has shown a significant improvement in disease-free survival rates for children with B-cell acute lymphoblastic leukemia (B-ALL) by combining standard chemotherapy with blinatumomab, an immunotherapy. The study found improved survival rates of up to 97.5% after three years, compared to 90% with chemotherapy alone.
A new study has unveiled how stem cells respond to their environment, with implications for inflammatory bowel disease and colorectal cancer. Stem cells rely on PIEZO1 and PIEZO2 ion channels for survival, and loss of these channels leads to severe illness and rapid death.
Researchers at SickKids have discovered that stress changes how our brain encodes and retrieves aversive memories, leading to generalized fearful responses. A promising intervention has been identified to limit this effect and potentially reduce the harm caused by PTSD.
Researchers have generated a topological map of the human genome, shedding light on how chromosomes spatially interact and communicate with each other. The study identified 61 specific regions that consistently interact across different cell types, helping organize the overall structure of the genome.
A research team at SickKids and U of T has developed a robotic system that allows scientists to test numerous potential therapeutics in arrhythmogenic cardiomyopathy, a leading cause of sudden cardiac death among young adults. The technology enables the identification of five potential therapies for the condition.
Researchers at SickKids have identified a novel recycling mechanism in mitochondria that allows damaged cristae to be removed and replaced, restoring normal function. This discovery could lead to new treatments for conditions characterized by mitochondrial dysfunction.
Inflammation in immune cells, specifically macrophages, may contribute to severe symptoms in children with lysosomal storage diseases. The study suggests that blocking sodium channels or MCP-1 receptors could reduce inflammation and tissue damage.
Scientists at The Hospital for Sick Children discovered a molecule called LK-2 that can protect neurons during stroke and prevent brain damage. LK-2 works by blocking glutamate's binding to acid-sensing ion channels, reducing calcium flow and cell death.
A groundbreaking clinical trial has shown that gene therapy can halt the progression of spastic paraplegia type 50 (SPG50) in a young boy. The treatment, delivered via spinal fluid, eliminated serious side effects and showed potential signs of improvement.
Research from The Hospital for Sick Children found that certain subgroups of adolescents with depression have an even higher risk of developing CVD. The study identified four distinct groups of adolescents with depression, two of which demonstrated higher CVD risk, including a subgroup with dyslipidemia despite being healthy.
Researchers used advanced imaging technology to reveal the atomic structure of an enzyme that neurons use to communicate. The study provides new insights into synaptic function and may lead to therapeutic targets for epilepsy and other neurological conditions.
A Canadian-led study has identified genes that may be partially responsible for the development of cerebral palsy. The research found that over 11% of children with CP have a genetic variant or likely genetic variant, highlighting the need for personalized treatment approaches.
A recent study from The Hospital for Sick Children found that pregnant teenagers in Ontario were at a 50% higher risk of premature death before age 31 compared to those with no teen pregnancy. The Young Prenatal Program and Young Families Program offer integrated physical, mental, and developmental care to support adolescent parents.
A team of scientists at The Hospital for Sick Children developed an innovative statistical approach to demonstrate the effectiveness of a medication in reducing disease progression and liver transplants in children with Alagille syndrome. Using data from an international real-world cohort, they found a 70% improvement in event-free sur...
A new genetic marker for cardiomyopathy has been identified through whole genome sequencing, suggesting that tandem repeat expansions may cause four percent of cases. This discovery provides a promising lead for early detection and the development of precision therapies.
A nurse practitioner at The Hospital for Sick Children reduced invasive scans by 58% after using an AI model to analyze ultrasounds. She developed a new type of bias called induced belief revision through repeated exposure to the model.
A team of researchers at The Hospital for Sick Children discovered a way to potentially reduce toxic cellular waste in patients with Zellweger Spectrum Disorder. By increasing the autophagic limit, they observed improved clearance of cellular waste, offering new pathways for treatment.
Researchers developed a blood test to detect cancer earlier in individuals with Li-Fraumeni syndrome, an inherited condition with a high risk of developing cancer. The study provides a proof-of-principle framework for detecting specific cancers earlier, paving the way for further clinical trials and improved patient care.
Researchers at The Hospital for Sick Children have discovered a designer peptide that targets a previously unknown protein-protein interaction in glioblastoma cells, resulting in the death of tumor cells across all subtypes. The treatment approach showed robust therapeutic efficacy and no side effects in preclinical models.
Researchers from four countries sequenced genomes of 100 infants with unexplained seizures to better understand the potential strengths of early genome sequencing for infantile epilepsy. The study found that 43% received a diagnosis within weeks, and this impacted prognosis in nearly 90% of cases.
Researchers discovered how two new compounds attack TB-causing bacteria, providing insights into future therapies. The study found that one compound binds better to ATP synthase than existing treatment, while another targets a previously unknown site.